A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

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Authors: Marwa Ben Jdila, Cécile Mignon-Ravix, Sihem Ben Ncir, Fatma Kammoun, Faiza Fakhfakh, Laurent Villard, and Chahnez Triki

Journal title: Orphanet Journal of Rare Diseases

Journal number: 16

Journal publisher: BioMed Central

Published year: 2021

Published pages: 317

DOI identifier: 10.1186/s13023-021-01951-w

ISSN: 1750-1172